BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

399 related articles for article (PubMed ID: 12677423)

  • 1. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.
    Boyadjiev SA; Justice CM; Eyaid W; McKusick VA; Lachman RS; Chowdry AB; Jabak M; Zwaan J; Wilson AF; Jabs EW
    Hum Genet; 2003 Jul; 113(1):1-9. PubMed ID: 12677423
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.
    Vanita ; Singh JR; Sarhadi VK; Singh D; Reis A; Rueschendorf F; Becker-Follmann J; Jung M; Sperling K
    Am J Hum Genet; 2001 Feb; 68(2):509-14. PubMed ID: 11133359
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
    Zhang Q; Guo X; Xiao X; Yi J; Jia X; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():890-900. PubMed ID: 15570218
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
    Riazuddin SA; Yasmeen A; Zhang Q; Yao W; Sabar MF; Ahmed Z; Riazuddin S; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
    Goodship J; Gill H; Carter J; Jackson A; Splitt M; Wright M
    Am J Hum Genet; 2000 Aug; 67(2):498-503. PubMed ID: 10889046
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
    Abouzeid H; Meire FM; Osman I; ElShakankiri N; Bolay S; Munier FL; Schorderet DF
    Ophthalmology; 2009 Jan; 116(1):154-162.e1. PubMed ID: 19004499
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
    Diaz GA; Khan KT; Gelb BD
    Genomics; 1998 Nov; 54(1):13-8. PubMed ID: 9806825
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.
    Sabir N; Riazuddin SA; Kaul H; Iqbal F; Nasir IA; Zafar AU; Qazi ZA; Butt NH; Khan SN; Husnain T; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Dec; 16():2911-5. PubMed ID: 21203409
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD; Patterson B; Craig JE; Russell-Eggitt IM; Wirth MG; Burdon KP; Hewitt AW; Cohn AC; Kerdraon Y; Mackey DA
    Br J Ophthalmol; 2005 Jul; 89(7):831-4. PubMed ID: 15965161
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel locus of coralliform cataract mapped to chromosome 2p24-pter.
    Gao L; Qin W; Cui H; Feng G; Liu P; Gao W; Ma L; Li P; He L; Fu S
    J Hum Genet; 2005; 50(6):305-310. PubMed ID: 15933805
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
    Wali A; Chishti M; Ayub M; Yasinzai M; Kafaitullah ; Ali G; John P; Ahmad W
    Clin Genet; 2007 Jul; 72(1):23-9. PubMed ID: 17594396
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new locus for autosomal dominant congenital cataracts maps to chromosome 3.
    Kramer PL; LaMorticella D; Schilling K; Billingslea AM; Weleber RG; Litt M
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):36-9. PubMed ID: 10634598
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
    Yamada K; Tomita H; Yoshiura K; Kondo S; Wakui K; Fukushima Y; Ikegawa S; Nakamura Y; Amemiya T; Niikawa N
    Eur J Hum Genet; 2000 Jul; 8(7):535-9. PubMed ID: 10909854
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.
    Sabir N; Riazuddin SA; Butt T; Iqbal F; Nasir IA; Zafar AU; Qazi ZA; Butt NH; Khan SN; Husnain T; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Dec; 16():2634-8. PubMed ID: 21179239
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
    Vanita V; Hejtmancik JF; Hennies HC; Guleria K; Nürnberg P; Singh D; Sperling K; Singh JR
    Mol Vis; 2006 Feb; 12():93-9. PubMed ID: 16518306
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.
    Pras E; Mahler O; Kumar V; Frydman M; Gefen N; Pras E; Hejtmancik JF
    J Med Genet; 2006 Oct; 43(10):e50. PubMed ID: 17047090
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
    Lohmann-Hedrich K; Neumann A; Kleensang A; Lohnau T; Muhle H; Djarmati A; König IR; Pramstaller PP; Schwinger E; Kramer PL; Ziegler A; Stephani U; Klein C
    Neurology; 2008 Feb; 70(9):686-94. PubMed ID: 18032746
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
    Pras E; Pras E; Bakhan T; Levy-Nissenbaum E; Lahat H; Assia EI; Garzozi HJ; Kastner DL; Goldman B; Frydman M
    Isr Med Assoc J; 2001 Aug; 3(8):559-62. PubMed ID: 11519376
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An autosomal dominant cataract locus mapped to 19q13-qter in a Chinese family.
    Zhao R; Yang Y; He X; Liu Z; Wang P; Zhou L; Tang J; Xu W; Li L; Zhu Y
    Mol Vis; 2011 Jan; 17():265-9. PubMed ID: 21283564
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.